Table 3.
Sample ID | Tissue | Notch1 5′ del mutation | Notch1 HD Exon 26 | Notch1 HD Exon 27 | Notch1 JM Exon 28 | Notch1 PEST domain Exon 34 | Fbxw7 Exon 8 | Fbxw7 Exon 9 | Bcl11b del mutation | Pten (RT-PCR) |
---|---|---|---|---|---|---|---|---|---|---|
1077 | Thy | GL | GL | GL | GL | 66353CC > TTTG | GL | GL | GL | GL |
1118 | Sp | GL | GL | 59855AAGA > TAAG (Lys-Ser > STOP-Gly) | GL | 66336C > GG | GL | GL | GL | GL |
1125 | Thy | P | GL | GL | GL | 66282CT > GCG | GL | GL | GL | GL |
1138 | Sp | GL | GL | 59724T > C(Leu > Pro) | GL | GL | GL | GL | GL | 388C > T, Arg > Trp |
Sp: spleen, Thy: thymus
HD: heterodimerization domain, JM: juxtamembrane domain
PEST: Proline/Glutmaic Acid/Serine/Threonine domain
GL, germline; P, positive for 5′ del mutation